Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608078
rs267608078
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
AC 0.700 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008

dbSNP: rs267608078
rs267608078
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
AC 0.700 CausalMutation CLINVAR Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer. 9929971

1999

dbSNP: rs267608092
rs267608092
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
C 0.700 CausalMutation CLINVAR

dbSNP: rs267608094
rs267608094
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
T 0.700 CausalMutation CLINVAR Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. 21056691

2011

dbSNP: rs267608094
rs267608094
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
T 0.700 CausalMutation CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412

2010

dbSNP: rs267608094
rs267608094
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
T 0.700 CausalMutation CLINVAR Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. 16418736

2006

dbSNP: rs267608098
rs267608098
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
G 0.700 GeneticVariation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993

2010

dbSNP: rs267608098
rs267608098
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
G 0.700 GeneticVariation CLINVAR Germ-line msh6 mutations in colorectal cancer families. 10537275

1999

dbSNP: rs267608120
rs267608120
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 CausalMutation CLINVAR Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. 21155762

2011

dbSNP: rs267608120
rs267608120
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 CausalMutation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993

2010

dbSNP: rs267608120
rs267608120
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 CausalMutation CLINVAR Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. 12732731

2003

dbSNP: rs267608121
rs267608121
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
ATCAG 0.700 CausalMutation CLINVAR The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer. 25307252

2015

dbSNP: rs267608121
rs267608121
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
ATCAG 0.700 CausalMutation CLINVAR Identification of germline genetic mutations in patients with pancreatic cancer. 26440929

2015

dbSNP: rs267608121
rs267608121
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
ATCAG 0.700 CausalMutation CLINVAR Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. 24440087

2014

dbSNP: rs267608121
rs267608121
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
ATCAG 0.700 CausalMutation CLINVAR Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. 21155762

2011

dbSNP: rs267608121
rs267608121
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
ATCAG 0.700 CausalMutation CLINVAR An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC. 19851887

2010

dbSNP: rs267608121
rs267608121
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
ATCAG 0.700 CausalMutation CLINVAR MSH6 germline mutations are rare in colorectal cancer families. 14520694

2003

dbSNP: rs267608122
rs267608122
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs267608122
rs267608122
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014

dbSNP: rs267608122
rs267608122
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014

dbSNP: rs267608122
rs267608122
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function. 21836479

2011

dbSNP: rs267608122
rs267608122
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993

2010

dbSNP: rs267608122
rs267608122
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915

2009

dbSNP: rs267608122
rs267608122
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009

2007

dbSNP: rs267608122
rs267608122
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. 15236168

2004